BACKGROUND Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord. Despite of the rarity, ARCA are both clinically and genetically heterogeneous. To date, more tha...

It has been argued that semantic information is distributed across various types of knowledge domains reflecting the manner in which information was acquired. We analyzed the influence of several common picture naming and word naming predictors across two categories: animals and tools/manipulable objects. However, in the regression analyses we used as additional predictors three different measu...

Bio-inspired aerodynamic designs have been mutually promoted by the studies on flapping wings in the past decades. Among the tons of researches topics, the wake formation/structure of an oscillating airfoil is more attractive, and it results in the development of both numerical methods and flow diagnostics techniques. In this paper, wake formation behind a sinusoidally piching NACA 0012 has bee...

13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported cases, these patients had progressive, debilitating neurological disease and slight pulmonary or infectious symptoms. Immunological dysfunction was variable and endocrinological defects were absent. Oculomotor findings, alpha-fetoprotein levels, and the incidence of chromosomal breakage were the most co...

BACKGROUND Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features. JS is clinically heterogeneous with some patients presenting with breathing abnormalities in t...

Objective Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods Our case is a 19-month-old female child with ...

Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of Purkinje cells and elevated α-fetoprotein. AOA2 is caused by mutations in the SETX gene that codes for the high molecular weight protein senataxin. Mutations in this gene also cause dominant neurodegenerative disorders. Similar to that observed for o...

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional role of senataxin in disease, we examined differential gene expression in AOA...

The objective of this study is to attempt a comparative evaluation of aerodynamic features of a conventional aircraft fuselage and those of a specially developed high lift generating (HLG) fuselage. This work is directed towards attainment of substantially higher lift coefficients, needed for future generations of transport aircraft with short take-off and landing capabilities (STOL). The conve...

While microbial nitrogen transformations in soils had been known to be affected by heavy metal pollution, changes in abundance and community structure of the mediating microbial populations had been not yet well characterized in polluted rice soils. Here, by using the prevailing molecular fingerprinting and enzyme activity assays and comparisons to adjacent non-polluted soils, we examined chang...